The condition is inherited as an autosomal recessive pattern. Patients are usually diagnosed in the neonatal period only. The condition is characterised by chronic, intractable diarrhea which starts in the first few days of life ultimately leading in metabolic acidosis and severe dehydration. Women don’t have any symptoms and usually the pregnancy and birth are normal. The disease is always fatal like most of the short bowel syndrome patients. Patients are usually treated with parenteral nutrition and intestinal transplant. Patient is usually considered as facing the intestinal failure and is treated with the patients which have short bowel syndrome. The patients will have a congenital lack of apical microvilli in the epithelial cells of the small intestine. Disease follows an autosomal recessive pattern of inheritance. The disease is extremely rare and only some more than 20 cases have been reported till date.
Only method of the diagnosis of the disease is by the biopsy of the small intestine. In utero diagnostics is not possible. Disease is found to be linked to MYO5b gene. In light microscopy appearance of microvillus inclusion disease is similar to celiac sprue. It lacks intraepithelial lymphocytic infiltration which is characteristic of celiac sprue. On staining the specimen may be found positive for carcinoembryonic antigen or CEA. Electron microscopy can diagnose definitively.
Disease can be confused with other conditions also like -